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GTR Home > Conditions/Phenotypes > Combined oxidative phosphorylation defect type 17

Combined oxidative phosphorylation defect type 17

Synonyms
Combined oxidative phosphorylation deficiency 17
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined oxidative phosphorylation deficiency-17 (COXPD17) is an autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood (summary by Haack et al., 2013). [from OMIM]

Available tests

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD17, ELC2, HPC2, ELAC2
    Summary: elaC ribonuclease Z 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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